| A new syndrome associated with absence of lower lid lacrimal punctum, ptosis, elevation deficiency of both eyes and mild facial dysmorphism. | |
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MedLine Citation:
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PMID: 19941420 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the lacrimal punctum. T our knowledge, this is the first article reporting the association of bilateral ptosis, facial dysmorphism, upper ocular movement limitation, and absence of the lacrimal punctum in a hereditary form. As a sole example, these findings may be accepted as a new syndrome with autosomal recessive pattern because of consanguinity. |
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Authors:
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Sefik Guran; Deniz Torun; Fatih Mehmet Mutlu; Yusuf Uysal; Mehmet Sahin Ugurel; Muhterem Bahce |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 30 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2009 Sep |
Date Detail:
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Created Date: 2009-11-27 Completed Date: 2010-02-16 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 146-51 Citation Subset: IM |
Affiliation:
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Department of Medical Biology, Medical Faculty, G?lhane Military Medical Academy, Ankara, Turkey. sefguran@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Blepharoptosis / genetics* Consanguinity Craniofacial Abnormalities / genetics* Eyelids / abnormalities* Female Humans Lacrimal Apparatus / abnormalities* Male Ocular Motility Disorders / genetics* Pedigree Syndrome Young Adult |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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